Browse Rare Disease Information

The table below displays a list of all rare diseases contained within RARe-SOURCE™, their gene associations, links to related features within RARe-SOURCE™ and links to external data sources. Clicking on the disease name, lists all the disease aliases available in RARe-SOURCE™ for this disease as well as recent publications obtained from PubMed. Clicking on the associated gene lands on the ‘Gene Information’ page with specific details on the gene.

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	Rare Disease Name	Associated Genes	Gene Disease Annotations	Disease Annotations	Disease IDs	Links

Rare Disease Name	Associated Genes	Gene Disease Annotations	Disease Annotations	Disease IDs	Links
Adan Amyloidosis Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis Cerebral Amyloid Angiopathy, Itm2b-related, 2	ITM2B	Gene Disease Literature AI	Disease Literature AI (191)	GARD: 0009169 OMIM: 117300 Orphanet: 97346	PubMed
Autosomal Dominant Optic Atrophy And Cataract Adoac Autosomal Dominant Optic Atrophy Type 3	OPA3	Gene Disease Literature AI	Disease Literature AI (367)	GARD: 0010203 OMIM: 165300 Orphanet: 67036	PubMed
Autosomal Dominant Spastic Paraplegia Type 9a Ad-spg9a Aldh18a1 Autosomal Dominant Complex Spastic Paraplegia	FAR1 ALDH18A1	Gene Disease Literature AI	Disease Literature AI (8)	GARD: 0009583 OMIM: 601162 Orphanet: 447753	PubMed
Cataract 18 Cataract, Autosomal Recessive Congenital 2 Catc2	FYCO1	Gene Disease Literature AI	Disease Literature AI (44367)	GARD: 0009892	PubMed
Cataract 35 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract Congenital Nuclear Cataract, Autosomal Recessive	CTRCT35	Gene Disease Literature AI (0)	Disease Literature AI (0)	GARD: 0009492	PubMed
Cataract 4, Multiple Types 3 Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract	CRYGD	Gene Disease Literature AI	Disease Literature AI (49440)	GARD: 0001144	PubMed
Cataract-microcornea Syndrome Cataract And Microcornea Syndrome Cataract Microcornea Syndrome	CRYBB1 CRYBA4 CRYBB2 CRYAA MAF GJA8 CRYGC CRYGD	Gene Disease Literature AI	Disease Literature AI (5)	GARD: 0001155 OMIM: 115700 Orphanet: 1377	PubMed
Congenital Cataract-hypertrophic Cardiomyopathy-mitochondrial Myopathy Syndrome Cardiomyopathy And Cataract Cataract And Cardiomyopathy	AGK TKFC SLC25A4	Gene Disease Literature AI	Disease Literature AI (44)	GARD: 0001142 OMIM: 212350 Orphanet: 1369	PubMed
Early-onset Anterior Polar Cataract Anterior Polar Cataract Anterior Polar Cataracts 1	CRYBA2 CRYBB3 CRYGB CRYAA	Gene Disease Literature AI	Disease Literature AI (57)	GARD: 0001140 OMIM: 601202 Orphanet: 98988	PubMed
Hereditary Hyperferritinemia-cataract Syndrome Bonneau-beaumont Syndrome Cataract-hyperferritinemia Syndrome	FTL	Gene Disease Literature AI	Disease Literature AI (135)	GARD: 0002806 OMIM: 600886 Orphanet: 163	PubMed
Micro Syndrome Micro Syndrome Micro Syndrome 1	TBC1D20 RAB18 RAB3GAP2 RAB3GAP1	Gene Disease Literature AI	Disease Literature AI (76)	GARD: 0005534 OMIM: 615663 Orphanet: 2510	PubMed
Oculofaciocardiodental Syndrome Anop2 (formerly) Anop2, Formerly	BCOR	Gene Disease Literature AI	Disease Literature AI (74)	GARD: 0004628 OMIM: 300166 Orphanet: 2712	PubMed
Total Early-onset Cataract Cct Cataract, Total Congenital	PGRMC1 NHS MIP LSS GJA8 GCNT2 EPHA2 DNMBP CRYGB CRYBB2 SIPA1L3 AGK LEMD2 HSF4 LIM2 CRYAA FYCO1	Gene Disease Literature AI	Disease Literature AI (114)	GARD: 0001159 OMIM: 618415 Orphanet: 98994	PubMed
Vici Syndrome Absent Corpus Callosum Cataract Immunodeficiency Corpus Callosum Agenesis-cataract-immunodeficiency Syndrome	EPG5	Gene Disease Literature AI	Disease Literature AI (77)	GARD: 0000448 OMIM: 242840 Orphanet: 1493	PubMed

Showing 1 to 14 of 14 entries (filtered from 2,142 total entries)